A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5096



Internal ID15549871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:160268948..160304257hg38UCSC Ensembl
Outerchr5:159695955..159731264hg19UCSC Ensembl
Outerchr5:159628533..159663842hg18UCSC Ensembl
Outerchr5:159628533..159663842hg17UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg384437
hg194437
hg184437
hg174437
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3398
SamplesNA12878
Known GenesCCNJL
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nsv5096
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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